Detalhe da pesquisa
1.
Histopathology of the cerebellar cortex in essential tremor and other neurodegenerative motor disorders: comparative analysis of 320 brains.
Acta Neuropathol
; 145(3): 265-283, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36607423
2.
Patterns of TDP-43 Deposition in Brains with LRRK2 G2019S Mutations.
Mov Disord
; 38(8): 1541-1545, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37218402
3.
Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1.
Hum Mol Genet
; 29(15): 2551-2567, 2020 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32761094
4.
Wolframin is a novel regulator of tau pathology and neurodegeneration.
Acta Neuropathol
; 143(5): 547-569, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35389045
5.
Genome-wide association study and functional validation implicates JADE1 in tauopathy.
Acta Neuropathol
; 143(1): 33-53, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34719765
6.
Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.
Ann Neurol
; 88(5): 1028-1033, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32743835
7.
Neuropathological correlation supports automated image-based differential diagnosis in parkinsonism.
Eur J Nucl Med Mol Imaging
; 48(11): 3522-3529, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33839891
8.
Neuropathological Findings in a Case of Parkinsonism and Developmental Delay Associated with a Monoallelic Variant in PLXNA1.
Mov Disord
; 36(11): 2681-2687, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415653
9.
Plasma p-tau181, p-tau217, and other blood-based Alzheimer's disease biomarkers in a multi-ethnic, community study.
Alzheimers Dement
; 17(8): 1353-1364, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33580742
10.
Evidence for the spread of human-derived mutant huntingtin protein in mice and non-human primates.
Neurobiol Dis
; 141: 104941, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32422281
11.
Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates.
Acta Neuropathol
; 139(4): 717-734, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31950334
12.
Mechanisms and Disease Associations of Haplotype-Dependent Allele-Specific DNA Methylation.
Am J Hum Genet
; 98(5): 934-955, 2016 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27153397
13.
Contextualizing the pathology in the essential tremor cerebellar cortex: a patholog-omics approach.
Acta Neuropathol
; 138(5): 859-876, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31317229
14.
C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy.
Acta Neuropathol
; 138(5): 795-811, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31327044
15.
Reduced LRRK2 in association with retromer dysfunction in post-mortem brain tissue from LRRK2 mutation carriers.
Brain
; 141(2): 486-495, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29253086
16.
Genetic load determines atrophy in hand cortico-striatal pathways in presymptomatic Huntington's disease.
Hum Brain Mapp
; 39(10): 3871-3883, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29797744
17.
Reply: More than a co-incidence? Exploring the increased frequency of amyotrophic lateral sclerosis in Huntington disease.
Acta Neuropathol
; 145(2): 259-261, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36542109
18.
Heterotopic Purkinje Cells: a Comparative Postmortem Study of Essential Tremor and Spinocerebellar Ataxias 1, 2, 3, and 6.
Cerebellum
; 17(2): 104-110, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28791574
19.
Banking brains: a pre-mortem "how to" guide to successful donation.
Cell Tissue Bank
; 19(4): 473-488, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30220002
20.
Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism".
Ann Neurol
; 89(1): 195-196, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098324